Diseases

Question 1

Define Respiratory acidosis

Answer 1

serum pH is low and the primary disturbance is increased pCO2 because there is an issue with the lung’s ability to remove CO2.

Question 2

Define Respiratory alkalosis

Answer 2

serum pH is high and the primary disturbance is decreased pCO2 because the lung is removing CO2 quickly (hyperventilation)

Question 3

Define Metabolic acidosis

Answer 3

serum pH is low and you see a decreased [HCO3-] and a decreased PCO2.

Question 4

Define Metabolic alkalosis

Answer 4

serum pH is high and you see an increase in [HCO3-] and PCO2

Question 5

What happens in Diabetic ketoacidosis?

Answer 5

increased ketone bodies (an organic non volatile acids) will lower serum pH. If the kidney is functional, the kidneys will secrete more H+ into urine and secrete more HCO3- into circulation

Question 6

Diarrhea will result in what type of pH disorder?

Answer 6

Metabolic acidosis

Question 7

Pyloric stenosis will result in what type of pH disorder?

Answer 7

Metabolic alkalosis

Question 8

Name the different types of respiratory acidosis

Answer 8

Airway obstructions, opioid drugs, disease in the phrenic nerve, Guillian Barre syndrome, Lung diseases: COPD, RDS, Fibrosis of lungs, muscle diseases affecting the chest wall.

Question 9

How can you get respiratory alkalosis?

Answer 9

Going to high altitudes.

Question 10

The following is an example of which pH imbalance?
(Normal levels are in parenthesis)
pH= 7.25 (7.4)
PCO2 = 60 mmHg (38-42)
HCO3-=26 mmol/L (22-25)

Answer 10

Respiratory Acidosis

Question 11

Look at the following blood gas levels. What pH imbalance disorder is it?
pH=7.47 (7.4)
PCO2 = 20 mmHg (38-42)
HCO3- = 19 mmol/L (22-25)

Answer 11

Compensated Respiratory Alkalosis

Question 12

Dried mucus can block the pancreatic duct and cause pancreatitis in these patients. What other complications could they have?

Answer 12

Cystic fibrosis

Question 13

Name 3 diseases that may result in steatorrhea (fatty stool).

Answer 13

1. Pancreatic disease
2. Biliary tract obstruction
3. Intestinal mucosal disease

Question 14

Which type of glycogen storage is Pompe disease?

Answer 14

Type II

Question 15

What is the name of glycogen storage disease Type III

Answer 15

Cori

Question 16

Hers disease is which type of glycogen storage disease?

Answer 16

Type VI

Question 17

What is the deficient enzyme in Von Gierke?

Answer 17

Glucose 6-phosphatase or glucose 6-phosphate translocase

Question 18

Which type of glycogen storage is Tarui disease?

Answer 18

Type VII

Question 19

A deficient lysosomal glucosidase is associated with which disease?

Answer 19

Pompe disease Type II

Question 20

McArdle syndrome is a defect in which enzyme?

Answer 20

Muscle glycogen phosphorylase

Question 21

Type IV glycogen storage disease is named?

Answer 21

Andersen disease

Question 22

Von Gierke disease is which type of glycogen storage disease?

Answer 22

Type I

Question 23

Which enzyme is deficient in Cori disease?

Answer 23

glycogen debranching enzyme

Question 24

Normal glycogen structure but high glycogen amount in the liver and the kidney is associated with which glycogen storage disease?

Answer 24

Type I

Von Gierke

Question 25

Normal glycogen structure but high glycogen amount in only the muscle cells is associated with which glycogen storage disease?

Answer 25

McArdle | Type V

Question 26

A deficiency with glycolysis PFK-1 in muscle and RBC is associated with which disease?

Answer 26

Tarui disease | Type VII

Question 27

Normal amounts of cytosolic glycogen and structure but very high amounts of glycogen in lysosomes is associated with which disease?

Answer 27

Pompe disease Type II defective lysosomal glucosidase

Question 28

High levels of normal glycogen in only the liver is associated with which disease?

Answer 28

Hers disease | Type VI

Question 29

A defective glycogen branching enzyme is associated with which disease?

Answer 29

Andersen disease | Type IV

Question 30

Normal amount of glycogen everywhere but the structure is abnormal. There are short branches, limit dextrinosis. Which disease is it associated with?

Answer 30

Cori Disease | Type III

Question 31

Scarring of the liver due to unbranched glucose chains in glycogen is associated with which disease?

Answer 31

Andersen | Type IV

Question 32

Hers disease is associated with which defective enzyme?

Answer 32

Liver glycogen phosphorylase

Question 33

Which disease is associated with these symptoms? Liver: severe hypoglycemia Hepatomegaly Kidney disease Early death if untreated, treatable by uncooked corn starch meal at night or nocturnal gastric glucose infusion

Answer 33

Von Gierke | Type I

Question 34

``` Which disease is associated with these symptoms? Liver: infantile cirrhosis Hepatomegaly due to cirrhosis Muscle: infantile hypotonia Early death ```

Answer 34

Andersen | Type IV

Question 35

Which disease is associated with these symptoms? Heart, liver, muscle: early death by heart failure Massive cardiomegaly, Treatable with enzyme infusion Normal blood glucose levels Infantile and late-onset forms

Answer 35

Pompe | Type II

Question 36

Which disease is associated with these symptoms? Muscle: lack of ATP leads to muscle cramping, no rise in lactate RBC: lack of ATP leads to hemolysis Normal blood glucose levels

Answer 36

Tarui | Type VII

Question 37

Which disease is associated with these symptoms? Muscle: weakness and cramping, no increase of lactate in blood after exercise, lack of ATP Normal blood glucose levels

Answer 37

McArdle | Type V

Question 38

``` Which disease is associated with these symptoms? Liver: mild hypoglycemia Muscle, heart: weakness, hypotonia, cardiomyopathy muscular dystrophy hepatomegaly ```

Answer 38

Cori | Type III

Question 39

Which disease is associated with these symptoms? Liver: mild hypoglycemia Hepatomegaly, growth retardation

Answer 39

Hers | Type VI

Question 40

Defective fructokinase results in which disease?

Answer 40

Essential fructosuria

Question 41

Which disease is associated with these symptoms? • Hypoglycemia after consuming fructose or sucrose • Hepatocellular failure • jaundice • positive clinitest

Answer 41

Hereditary Fructose Intolerance | Aldolase B defect

Question 42

Which enzyme is deficient in galactose 1-phosphate uridyl transferase?

Answer 42

Classical Galactosemia

Question 43

Does Nonclassical galactosemia result in liver disease?

Answer 43

No, there is no buildup of toxic galactose 1 phosphate

Question 44

ALS is a defect in which enzyme?

Answer 44

Superoxide dismutase

Question 45

Chronic granulomatous disease is a defect in which enzyme?

Answer 45

NADPH oxidase deficiency

Question 46

Myeloperoxidase deficiency results the inability of immune cells to fight off what type of infection?

Answer 46

Fungal infections. | Myeloperoxidase makes hypochlorous acid (HOCL) which is needed for destruction of fungi

Question 47

Leber Hereditary Optic Neuropathy

Answer 47

defect in NADH dehydrogenase (complex I). Rapid optic nerve death, leading to blindness in young adult life

Question 48

Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF)

Answer 48

using succinic dehydrogenase stain will show ragged red fibers. Mitochondria are disorganized

Question 49

MELAS

Answer 49

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes